M.E. Lobashev’s physiological theory of the mutation process and the formation of contemporary views on mutational changes in genetic material

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Abstract

Changes in mutation rates can significantly impact population size and its genetic structure, leading to the emergence of new traits and species. At the same time, the destabilization of genetic material is the main cause of hereditary and oncological diseases and aging. M.E. Lobashev was the first to point out the connection between mutations and repair. He introduced the concept of a premutation state or primary lesion of genetic material and suggested that mutagenesis is a physiological process in which mutations occurs during the repair of damaged genetic material due to non-identical restoration of its structure. The theories of M.E. Lobashev laid the groundwork for understanding the causes and mechanisms of inherited changes in genetic material, which have been experimentally confirmed in studies of replication, repair, and recombination. It is now known that mutations arise through a multistep process over time, due to ambiguity of one of template processes — DNA synthesis. Recent research made it possible to establish the physical nature of primary lesions and mutations, to develop various methods for their identification, and estimate the impact of primary lesions and mutations in the phenotype formation.

About the authors

Anna S. Zhuk

Saint Petersburg State University; Vavilov Institute of General Genetics, St. Petersburg Branch, Russian Academy of Sciences

Email: ania.zhuk@gmail.com
ORCID iD: 0000-0001-8683-9533
SPIN-code: 2223-5306
Scopus Author ID: 54953157500
ResearcherId: N-5270-2015

Cand. Sci. (Biology), Assistant Professor

Russian Federation, Saint Petersburg; Saint Petersburg

Elena I. Stepchenkova

Saint Petersburg State University; Vavilov Institute of General Genetics, St. Petersburg Branch, Russian Academy of Sciences

Email: stepchenkova@gmail.com
ORCID iD: 0000-0002-5854-8701
SPIN-code: 9121-7483
Scopus Author ID: 8862552900
ResearcherId: F-9931-2014
https://www.researchgate.net/profile/Elena_Stepchenkova

Cand. Sci. (Biology)

Russian Federation, Saint Petersburg; Saint Petersburg

Sergey G. Inge-Vechtomov

Saint Petersburg State University; Vavilov Institute of General Genetics, St. Petersburg Branch, Russian Academy of Sciences

Author for correspondence.
Email: ingevechtomov@gmail.com
ORCID iD: 0000-0002-2832-6825
SPIN-code: 3743-7626
Scopus Author ID: 23473232500
ResearcherId: 23473232500
http://www.ras.ru/win/db/show_per.asp?P=.id-1684.ln-ru

Dr. Sci. (Biology), Professor, Academician of the Russian Academy of Sciences

Russian Federation, Saint Petersburg; Saint Petersburg

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Supplementary files

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2. Fig. 1. The relationship between mutations and repair

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3. Fig. 2. Primary DNA lesions, repair mechanisms, and the cell cycle stages during which the corresponding repair systems are active [39]

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4. Fig. 3. Interconversion of primary DNA lesions during repair

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5. Fig. 4. Main similarities and differences between genetic material alterations of two types — primary lesions and mutations

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